eGNA Case Conference

Case Study Abstract Form

Instructions

Submit your individual/team case study abstract in the fields below.

Do not submit PHI (Protected Health Information) in your abstract.

You will be notified once the eGNA Advisory Board has reviewed your abstract and has decided to select / not select your case for full submission.

Name, First
MI
Name, Last
Degree
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Condition	3-MCC: 3-Methylcrotonyl-CoA carboxylase deficiency ASA: Argininosuccinic aciduria BIOT: Biotinidase deficiency BKT: B-Ketothiolase deficiency CAH: Congenital adrenal hyperplasia Cbl A,B: Methylmalonic acidemia (cobalamin disorders) CCHD: Critical congenital heart disease CF: Cystic fibrosis CH: Primary congenital hypothyroidism CIT: Citrullinemia, type I CUD: Carnitine uptake defect/carnitine transport defect GA1: Glutaric acidemia type I GALT: Classic galactosemia GSD II: Glycogen Storage Disease Hb S/BTh: S, Beta-thalassemia Hb S/C: S,C disease Hb SS: S,S disease (Sickle cell anemia) HCY: Homocystinuria HMG: 3-Hydroxy-3-methyglutaric aciduria IVA: Isovaleric acidemia LCHAD: Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency MCAD: Medium-chain acyl-CoA dehydrogenase deficiency MCD: Holocarboxylase synthase deficiency MSUD: Maple syrup urine disease MUT: Methylmalonic acidemia (methylmalonyl-CoA mutase) OTC: Ornithine transcarbamylase deficiency PDE: Pyridoxine-dependent Epilepsy PKU: Classic phenylketonuria PROP: Propionic acidemia TFP: Trifunctional protein deficiency TYR I: Tyrosinemia, type I VLCAD: Very long-chain acyl-CoA dehydrogenase deficiency X-ALD: X-linked Adrenoleukodystrophy
	Submit your individual/team case study abstract in the fields below. Sections: Title of Abstract Body of Abstract Description - Patient overview (no PHI or specific patient information), screening, diagnosis and treatment approach, and overview of clinical signs/symptoms. Significance - Lessons learned, gaps Conclusion and Next Steps - Queries, future directions Body of Abstract is limited to 1500 characters.
Abstract Title
Abstract Body No PHI in Abstract LIMIT: 1500 characters
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